Canonical Allele Identifier: CA010976

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201204
• ClinVar RCV Id: RCV000182669 ; RCV003638636
• dbSNP Id: rs794728716
• MyVariant Identifiers: chr1:g.237580414T>C (hg19) ; chr1:g.237417114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417114T>C , CM000663.2:g.237417114T>C	GRCh38
NC_000001.10:g.237580414T>C , CM000663.1:g.237580414T>C	GRCh37
NC_000001.9:g.235647037T>C	NCBI36
NG_008799.2:g.379713T>C
NG_008799.3:g.379931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.839T>C	ENSP00000499659.2:p.Leu280Pro
ENST00000659194.3:c.839T>C	ENSP00000499653.3:p.Leu280Pro
ENST00000660292.2:c.839T>C	ENSP00000499787.2:p.Leu280Pro
ENST00000366574.7:c.839T>C MANE Select	ENSP00000355533.2:p.Leu280Pro
ENST00000360064.7:c.791T>C	ENSP00000353174.7:p.Leu264Pro
ENST00000366574.6:c.839T>C	ENSP00000355533.2:p.Leu280Pro
NM_001035.2:c.839T>C	NP_001026.2:p.Leu280Pro
XM_006711802.2:c.839T>C	XP_006711865.1:p.Leu280Pro
XM_006711803.2:c.839T>C	XP_006711866.1:p.Leu280Pro
XM_006711804.2:c.839T>C	XP_006711867.1:p.Leu280Pro
XM_006711805.2:c.839T>C	XP_006711868.1:p.Leu280Pro
XM_006711806.2:c.839T>C	XP_006711869.1:p.Leu280Pro
XM_006711807.2:c.839T>C	XP_006711870.1:p.Leu280Pro
XM_006711808.2:c.839T>C	XP_006711871.1:p.Leu280Pro
XM_006711809.2:c.839T>C	XP_006711872.1:p.Leu280Pro
XM_006711810.2:c.839T>C	XP_006711873.1:p.Leu280Pro
XR_949152.1:n.1120T>C
XM_006711802.3:c.839T>C	XP_006711865.1:p.Leu280Pro
XM_006711803.3:c.839T>C	XP_006711866.1:p.Leu280Pro
XM_006711804.3:c.839T>C	XP_006711867.1:p.Leu280Pro
XM_006711805.3:c.839T>C	XP_006711868.1:p.Leu280Pro
XM_006711806.3:c.839T>C	XP_006711869.1:p.Leu280Pro
XM_006711807.3:c.839T>C	XP_006711870.1:p.Leu280Pro
XM_006711808.3:c.839T>C	XP_006711871.1:p.Leu280Pro
XM_006711810.3:c.839T>C	XP_006711873.1:p.Leu280Pro
XM_017002028.1:c.818T>C	XP_016857517.1:p.Leu273Pro
XR_002957299.1:n.1153T>C
XR_949152.2:n.1153T>C
NM_001035.3:c.839T>C MANE Select	NP_001026.2:p.Leu280Pro